DEAF1 and epilepsy: Missense variants in the SAND domain of DEAF1 have been previously reported in association with dominant intellectual disability phenotypes, and a severe recessive epilepsy phenotype.31,32 The same allele identified in subject #9 (p.G212S) was recently reported in a 15-year-old male with developmental regression and seizures.33 Functional studies suggest that this allele eliminates both DEAF1 transcriptional repression activity and DEAF1–DNA interactions.